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Thursday, December 12, 2013
First Diagnosis of Cystic Fibrosis
Can you tell me when and who made the discovery of Cystic Fibrosis?
There is not any one person who “discovered” cystic fibrosis (CF). The understanding of this disease was more an evolution of descriptions of symptoms and findings we now associate with CF. Wives tales and fables from as far back as the 1600s report that children that taste salty when kissed on the brow were hexed, salty tasting children were bewitched, which may reflect an early references to CF. Case reports from the 1800s through the early 1900s describe infants with meconium ileus, sometimes with pancreatic changes at autopsy. By 1900, children with pancreatic insufficiency were recognized to have features consistent with CF, and some of these children had associated lung disease. The first publication on CF is usually attributed to Fanconi and colleagues in 1936. This manuscript, in German, describes two children with “cystic pancreas fibromatosis and bronchiectasis”. The first comprehensive description of the disease came in 1938, when Anderson reported 49 patients with “cystic fibrosis of the pancreas” and Blackfan and May described 35 patients with CF. Most authors by this time began to recognize a familial inheritance pattern. Anderson and Hodges proposed an autosomal recessive pattern of inheritance in CF in 1946. Of note, most of these early descriptions dwelt on the pancreatic dysfunction, with pulmonary involvement described secondarily. It was Paul di Sant’Agnese, in 1953, who first described the abnormalities in sweat electrolytes, which provided the basis for sweat testing, the primary diagnostic test for CF today.
References: Fanconi G, Uehlinger E, Knauer C. Das coeliakiesyndrom bei angeborener zysticher pankreasfibromatose und bronchiectasien. Wein Med Wchnschr. 1936. 86:753.
Andersen DH, Cystic fibrosis of the pancreas and its relationship to celiac disease; a clinical and pathological study. Am J Dis Child. 1938. 56:344.
Balckfan KD, May CD. Inspissation of the secretion, dilation of the ducts and anni atrophy of the pancreas in infants. J Pediatr. 1938. 13:627.
Di Sant’Agnese PA, Darling RC, Perera GA et. al. Abnormal electrolytic composition of sweat in cystic fibrosis of the pancreas. Clinical significance and relationship to disease. Pediatrics. 1953. 12:549.
Patricia Joseph, MS, MD
Associate Professor of Medicine
College of Medicine
University of Cincinnati